The first survey to reflect on the social and medical needs of rare metabolic patients and families in Europe

The European Reference Network for Hereditary Metabolic Disorders (MetabERN) has performed a survey study, published on August 2021 in the Orphanet Journal of Rare Diseases, relating to the perception of social and medical assistance in the daily life of rare metabolic patients. This study was the first to focus on inherited metabolic diseases (IMDs) patients, caregivers and families across Europe, aiming to provide a comprehensive overview of their social and medical needs.

Although the incidence of a single IMD is low, the global incidence of all IMDs taken together is high. Along with obvious health challenges affecting their lives, patients with a rare metabolic disease also experience social difficulties and exclusion. In the MetabERN survey, 924 respondents, including patients, parents, and caregivers from 25 European countries answered questions regarding the medical, social, psychological, educational, and economic factors associated with IMDs.

Overall, the results show a widespread lack of social, psychological, and economic support for IMDs patients in Europe. The survey revealed that psychological and social services, including free educational and development services, were either unavailable or unknown to the majority of patients and their caregivers.

The study findings emphasise the need for further political actions and social awareness campaigns to improve the quality of life of rare metabolic patients. Additionally, better dissemination of information about the available services is needed among the rare metabolic community.

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